Rare Leader: Luke Rosen, Founder of KIF1A.org

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January 18, 2018

TheBasicsName: Luke Rosen

Title: Founder

Organization: KIF1A.org

Disease focus: KIF1A mutations, which cause a degenerative neurological condition with a progressive course. ​Often these mutations occur spontaneously and are non-inherited genetic changes, making the disease difficult to diagnose.

Headquarters: New York City

How did you become involved in rare disease: In august 2016, my daughter Susannah was diagnosed with a mutation in her KIF1A gene. That prompted us to find other patients. At the time there were 15 people in the world known to have the disease (organization’s registry now has 112). There were no disease specific organization that existed, and we started a website to put all the literature in one place because it was so hard to find. People started connecting. We did whatever we could to get on the radar. We have a family meeting in New York, and got the group together.

Previous career: Actor and writer

Education: B.A. in classics from Connecticut College (and Oxford University).

The OrganizationOrganization’s mandate: We exists to connect families and support ongoing research.

Organization’s strategy: We direct all of the families who contact us to one research team at Columbia. So right away, our community is growing, families are finding support and our clinical registry and natural history are evolving. We do that to eliminate parallel work in the space, it saves time and keeps patient information uniform and accessible. We make all of our research freely accessible to the entire scientific community. Building a clinical cohort of phenotypically similar patients is aligned with growing an active, strong community of families with similar journey and stories. When science and community are aligned, the process is more efficient. We are lucky that we have such a dedicated research team in place.

Funding strategy: Our Funding Strategy is completely science driven—assuring every donor that their support is directed to innovative research. We’re a lean organization driven by passionate rare disease leaders. When it comes to strategic development and our urgent need to support KIF1A research, the best strategy is to inform the public about the disease and ask for help. Efficient rare disease fundraising calls for education before the ask.

What’s changing at your organization in the next year: We’re growing our registry. The community is growing, and more families are finding a diagnosis. With increasing access to whole exome sequencing, our registry is becoming really robust. Newly diagnosed patients see our site listed as a resource on lab results and immediately contact us. Right off the bat they will get involved, find others on the same path, and play a vital role in community growth and scientific discovery.

ManagementStyleManagement philosophy: We are collaborative but structured. We have a board and active members, but each plays a unique role in the foundation and every member of the team is constantly communicating with patients, families and our scientific advisors.

Guiding principles for running an effective organization: Urgency and collaboration. Those are the two principles. Everything has to happen efficiently. Rare disease families don’t have that much time to have people working on the same things. We need to be collaborating cross functionally with the scientific community, the research community, biotech and pharma, and our patient groups. Getting everybody together working toward the same goal is how we are going to make a ten-year process of R&D a two-year process.

Best way to keep your organization relevant: Find more patients and families to tell their story. It’s obvious that the scientific community is so driven by the patients and people at the core of rare disease. So yeah, we need to get kids access to genetic testing, find more patients and tell more stories. That ignites the urgency for a therapeutic outcome.

Why people like working for you: There’s no linear working. We’re often putting our heads together to come up with something far greater than any of us could do individually. We all have the same goal.

Mentor: Wendy Chung, Associate Professor of Pediatrics at Columbia University Medical Center and Director of the Clinical Genetics Program there. When we finally received Susannah’s diagnosis, we were very scared. Then we found Wendy Chung. She offered to explain the implications of Susannah’s disease. She was very clear and empathetic, she was supportive and consistent. Dr Chung is very much involved in all things Susannah and KIF1A. On that difficult day, when the elevator opened, we were met by a genetic counselor and a social worker. We were fully supported and informed. Most of all we were activated. The goal of our foundation is to make sure families have access to that support, activation and empathy-driven guidance. Wendy is very much our Sherpa us the KIF1A mountain.

On the Job

What inspires you: My children. Watching Susannah work so hard every single day and seeing her brother holding her hand when she falls down.

What makes you hopeful: Seeing the children with KIF1A smile and work so hard. Those smiles are the picture of hope.

Best organization decision: To centralize all of our information and data. We make 100 percent of our funds to go directly to research. We have to figure out ways for the organization to function without too many admins.

Hardest lesson learned: Our registry changes. It doesn’t just increase. We lost two children in the last twelve months and the difficulty of communicating that to people is far beyond measure.

Toughest organization decision: Not to allocate funds to support causes outside of research. Families have immediate needs like accessibility and travel. It would be great to write a $10,000 check and make every family’s house accessible, but we decided early on that 100% of our funds go directly to research. That was a difficult decision we made, but one that will pay off. We had to jumpstart that research immediately. It’s the most important thing, research and discovery.

Biggest missed opportunity: Earlier diagnosis.

Like best about the job: Meeting the kids and families. Seeing the kids succeed in walking, climbing a wall in physical therapy, singing a song—that’s what makes me smile. Watching these strong, brave kids accomplish goals people thought were impossible. Our kids defy the odds of our disease every day. That’s the thing about rare disease—nobody really knows. The doctor tells me my kid will never dance, and the next day she’s up dancing. The knowledge that something labeled untreatable and incurable, is certainly treatable—that there’s a therapeutic option within reach because of the families in our group and the scientists who think about those families every morning when they go to work.

Like least about the job: Every once in a while we get another reminder about just how far away we are from treatment. That’s what I like least—that reminder that there’s still a long way to go. Time is very much my enemy.

Pet peeve: When clinicians don’t justify genetic testing for a kid. That’s how we are going to get a diagnosis, we need to get every person who presents with seizures and movement disorder genetically tested immediately.

First choice for a new career: I’m about five months into it right now. I work in patient engagement at Ovid, a biotech in the rare neurological space.

Personal Taste
Most influential book: I just reread Zen and the Art of Motorcycle Maintenance by Robert Pirsig. I liked the idea about the difference between making good time and making good time. You can get somewhere fast, or be thorough about your course. We somehow need to accomplish both.

Favorite movie: The Natural

Favorite music: Antonio Vivaldi

Favorite food: Pizza

Guilty pleasure: Pizza

Favorite way to spend free time: Laughing with my kids, Nat and Susannah.

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